A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian family.

IF 1.6 4区医学 Q3 CLINICAL NEUROLOGY

Neurogenetics Pub Date : 2025-03-11 DOI:10.1007/s10048-025-00814-x

Alassane Baneye Maiga, Abdoulaye Arama, Abdoulaye Yalcouyé, Mohamed Albakaye, Ji Weizhen, Salia Bamba, Oumou Traoré, Moussa Sangaré, Mahamadou Kotioumbé, Samba Ogomaly Djimdé, Modibo K Goita, Salimata Diarra, Mustafa K Khokha, Saquib A Lakhani, Guida Landouré

引用次数: 0

Abstract

Metachromatic Leukodystrophy (MLD) is a rare autosomal recessive lysosomal disorder caused by ARSA gene variants, affecting central and peripheral nervous systems. While ARSA variants are reported globally, data from sub-Saharan Africa (SSA) are limited. We report the first SSA case, a Malian patient with a rare phenotype: predominant tonic seizures without typical peripheral neuropathy signs. The patient harbored a novel ARSA variant (c.191T > C; p.Phe64Ser), predicted deleterious by in silico tools. This case expands the genetic and phenotypic spectrum of MLD, underscoring the need for genetic studies in underrepresented regions.

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在一个马里家庭中，ARSA的一种新变异导致了一种罕见的婴儿异色性脑白质营养不良表型。

异色性脑白质营养不良（MLD）是一种罕见的常染色体隐性溶酶体疾病，由ARSA基因变异引起，影响中枢和周围神经系统。虽然ARSA变异在全球都有报道，但撒哈拉以南非洲（SSA）的数据有限。我们报告的第一个SSA病例，一个马里病人罕见的表型：主要强直性癫痫发作没有典型的周围神经病变征象。该患者携带一种新的ARSA变体(C . 191t > C；p.Phe64Ser)，通过硅工具预测有害。该病例扩大了MLD的遗传和表型谱，强调了在代表性不足的地区进行遗传研究的必要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Neurogenetics 医学-临床神经学

CiteScore

3.90

自引率

0.00%

发文量

审稿时长

6 months

期刊介绍： Neurogenetics publishes findings that contribute to a better understanding of the genetic basis of normal and abnormal function of the nervous system. Neurogenetic disorders are the main focus of the journal. Neurogenetics therefore includes findings in humans and other organisms that help understand neurological disease mechanisms and publishes papers from many different fields such as biophysics, cell biology, human genetics, neuroanatomy, neurochemistry, neurology, neuropathology, neurosurgery and psychiatry. All papers submitted to Neurogenetics should be of sufficient immediate importance to justify urgent publication. They should present new scientific results. Data merely confirming previously published findings are not acceptable.